Pathogenic gene variants in ccdc39 ccdc40 rsph1 rsph9 hydin, and spef2 cause defects of sperm fl agella composition and male infertility

HIGHLIGHTS

• who: RS head and collaborators from the Suzhou Municipal Hospital, China Fudan University, China have published the paper: Pathogenic gene variants in CCDC39 CCDC40 RSPH1 RSPH9 HYDIN, and SPEF2 cause defects of sperm fl agella composition and male infertility, in the Journal: (JOURNAL)
• what: The authors demonstrate that defects in the respective genes cause abnormal composition of the axonemal ruler, radial spoke head and CP-apparatus, also in sperm flagella. Next, the authors demonstrate that the axonemal ruler protein CCDC39 is also absent from flagellar axonemes of CCDC40-mutant individuals (OP-11 II2 and OP . . .
  

   

  

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